Disease browser and phenotype portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Calcinosis (D002114)
Parent Node: Ear Diseases (D004427)
Parent Node: Intellectual Disability (D008607)
Parent Node: Muscular Atrophy (D009133)
..Starting node ..Primrose syndrome (C536420)
Child Nodes:
Sister Nodes:
..Allan-Herndon-Dudley syndrome (C537047)
..Arnold Stickler Bourne syndrome (C537431)
..Facial Dysmorphism with Multiple Malformations (C565579)
..Furukawa Takagi Nakao syndrome (C538193)
..Lethal Congenital Contractural Syndrome 3 (C566961)
..MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT (OMIM:300354)
..Miyoshi Muscular Dystrophy 2 (C567646)
..Miyoshi Muscular Dystrophy 3 (C567645)
..Miyoshi myopathy (C537480)
..Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus (C562774)
..Muscular Atrophy, Malignant Neurogenic (C563559)
..Nathalie syndrome (C538342)
..Primrose syndrome (C536420)
..Sarcopenia (D055948)
..Thakker Donnai syndrome (C536503)
..Wieacker syndrome (C536703)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	9295
Name:	Primrose syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D002114\|MESH:D004427\|MESH:D008607\|MESH:D009133
TreeNumbers:	C09.218/C536420 \|C10.597.606.643/C536420 \|C10.597.613.612/C536420 \|C16.131.077/C536420 \|C18.452.174.130/C536420 \|C23.300.070.500/C536420 \|C23.888.592.604.646/C536420 \|C23.888.592.608.612/C536420 \|F03.550.600/C536420
Synonyms:
Slim Mappings:	Congenital abnormality\|Ear-nose-throat disease\|Mental disorder\|Metabolic disease\|Nervous system disease\|Pathology (anatomical condition)\|Signs and symptoms
Reference:	MedGen: C536420 MeSH: C536420 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants